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A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders

The Fragile X-related disorders (FXDs) are Repeat Expansion Diseases, genetic disorders that result from the expansion of a disease-specific microsatellite. In those Repeat Expansion Disease models where it has been examined, expansion is dependent on functional mismatch repair (MMR) factors, includ...

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Detalhes bibliográficos
Publicado no:Nucleic Acids Res
Main Authors: Hayward, Bruce E, Steinbach, Peter J, Usdin, Karen
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7430641/
https://ncbi.nlm.nih.gov/pubmed/32619224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkaa573
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